ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic by Invitae

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Total variants: 6
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HGVS dbSNP
NC_000016.9:g.(?_2546130)_(2550979_?)del
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224

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